9 Hematology

Question 1

What percentage of plasma is water?

Answer 1

90%

Question 2

What is included in plasma? (3 things)

Answer 2

clotting factors, fibrinogen and antibodies

Question 3

lymphocytes are divided into what 2 categories?

Answer 3

B cell (antibody) and T cell (hypersensitivity)

Question 4

What is the inheritance of sickle cell?

Answer 4

autosomal recessive. so 2 carriers have a 1 in 4 chance of an affected or unaffected child. and a 1 in 2 chance that they will have a carrier.

Question 5

What is the inheritance of HS?

Answer 5

autosomal dominant, but only one abnormal gene is needed for the disorder to express itself so the chance is 50/50

Question 6

Inheritance pattern of Fanconi Anemia?

Answer 6

autosomal recessive. 1/4 chance it will affect the child if both parents are carriers

Question 7

Patient with anemia and some physical anomalies including short stature, skin pigmentation, upper limb deformities, microcephaly (and could have GI/renal and cardiac issues). Which type of anemia?

Answer 7

Fanconis

Question 8

What is the percent chance people with Fanconi’s end up progressing to MDS or AML?

Answer 8

50%

Question 9

Which cell lines are affected with fanconis?

Answer 9

All 3

Question 10

What does a chromosomal breakage study diagnose?

Answer 10

Fanconis anemia

Question 11

What is the cure for Fanconi’s anemia?

Answer 11

transplant - 66% survival with matched donors, 29% with unrelated matched

Question 12

What is an early sign of Schwachman Diamond syndrome?

Answer 12

Pancreatic insufficiency - fatty foul smelling stools due to fatty infiltration.

Question 13

Short stature, bone deformities, pancreatic insufficiency, FTT and bone marrow failure would likely be which type of anemia?

Answer 13

Schwachman Diamond

Question 14

Schwachman Diamond is what type of inheritance?

Answer 14

autosomal recessive

Question 15

Which diseases include an increased risk for MDS/AML and require regular bone marrow biopsies?

Answer 15

(Schwachman Diamond, Fanconi’s, for the BMs) dyskeratosis congenita, diamond blackfan anemia, congenital neutropenias

Question 16

Hyperpigmentation (trunk, neck, face), nail dystrophy (ridges in the nails and distorted, weak fingernails) and leukoplakia (which patches in cheeks) can be part of which syndrome? What happens as a result of this syndrome?

Answer 16

Dyskeratosis congenita, the severe inherited form. Progressive bone marrow failure is part of this in the second decade of life usually. often it is thrombocytopenia first.

Question 17

What is an example of pure red cell aplasia?

Answer 17

diamond blackfan. cell defect kills RBC precursers.

Question 18

Diamond blackfan anemia is inherited how?

Answer 18

autosomal dominant.

Question 19

50% of people with diamond blackfan have these features:

Answer 19

deformities of hands, short stature, snub nose, thick upper lip, light hair, wide set eyes. some

Question 20

Macrocytic anemia with low or absent retic (sometimes high plt and mild neutropenia) is which disease?

Answer 20

Diamond Blackfan anemia

Question 21

What is the treatment for diamond blackfan anemia?

Answer 21

Steroids, then tapered down until possibly discontinued. supportive transfusions. only cure is transplant. many have remissions while weaning steroids-fails often.

Question 22

What to watch for with diamond blackfan patients?

Answer 22

iron overload, steroid side effects (including decreased response to puberty, impaired immunity, bone density loss, etc).

Question 23

Pallor, fatigue, heart murmur preceeded by viral illness. Low hgb and retic. What is this?

Answer 23

TEC, resolves in 4-6 weeks, etiology unknown

Question 24

What is Kostmann syndrome?

Answer 24

severe congenital neutropenia, more common with Middle Eastern descent

Question 25

Possible causes of autoimmune neutropenia?

Answer 25

post infections like Parvo, lupus, ALPS,

Question 26

Treatment for autoimmune neutropenia?

Answer 26

usually not required, can use GCSF or IVIG as needed

Question 27

What is the difference between warm agglutinins and cold agglutinins? Which is more life threatening?

Answer 27

Warm - antibodies destroy RBCs at normal body temp. Rapid and life threatening Cold - antibodies activate below normal body temp - mild, self limiting, need warm blood if transfused.

Question 28

Acute symptoms: Low coombs, low hgb, high retic and bili, jaundice, splenomegaly. abnormally shaped RBCs. Possible diagnosis?

Answer 28

Autoimmune hemolytic anemia.

Question 29

Why do patients with automimmune hemolytic anemia have dark urine?

Answer 29

high bili and jaundice due to lysing RBCs.

Question 30

Treatment for autoimmune hemolytic anemia.

Answer 30

high dose steroids and IVIG. may need transfusions and splenectomy. Plasmapharesis may work but probably temporary.

Question 31

What is PNH?

Answer 31

an acquired hemolytic anemia. life threatening. It is a result of a mutation in the PIGA gene.

Question 32

What is a treatment option for PNH?

Answer 32

transplant. or immunosuppression like aplastic anemia. could also use Solris, a monoclonal antibody

Question 33

How is G6PD diagnosed?

Answer 33

usually on newborn screen. prolonged jaundice

Question 34

What does a pyruvate kinase deficiency cause?

Answer 34

hemolytic anemia.

Question 35

Pt with anemia and thrombocytopenia after infectious diarrhea which led to acute renal failure could have

Answer 35

HUS. most common cause of ARF in children.

Question 36

What 3 factors cause vaso-occlusive crisis in SCD?

Answer 36

ischedmia due to vessel occlusion, endothelial damage, local inflammation

Question 37

What leads to 25% of all SCD deaths?

Answer 37

ACS

Question 38

SCD - pain crisis, pneumonia, prior episode of ACS and underlying pulmonary disease are all risk factors for?

Answer 38

ACS. lungs occluded with sickled RBCs leads to rapid deterioration of respiratory function.

Question 39

Why consider neuropsych testing for SCD?

Answer 39

dleayed learning, possible silent infarcts

Question 40

How is thalassemia inherited?

Answer 40

autosomal recessive. one or more gene mutations.

Question 41

For alpha thal - what are the 4 types? (one is asymptomatic, one has mild/microcytic anemia, one has mild to severe anemia and one is lethal)

Answer 41

a thal silent carrier - asymptomatic a thal trait - mild anemia HbH - mild to severe anemia Hydrops fetalis - lethal

Question 42

Alpha thal vs beta thal - which is usually a deletion and which is usually a mutation?

Answer 42

alpha thal - degrees of deletion | beta thal - degrees of mutation

Question 43

Normal amount of a chains but not enough B chains results in an excess of a chains and leads to hemolysis. Which disease?

Answer 43

beta thal

Question 44

Which beta thal is asymptomatic with mild anemia? which is moderate anemia? which is severe and transfusion dep?

Answer 44

minor (trait), intermedia, and major.

Question 45

What 2 factors are major contributers to cardiac disease and endocrinopathies in thalassemia?

Answer 45

iron overload and poor chelation.

Question 46

Pt has a normal PT and prolonged PTT, which bleeding disorder?

Answer 46

hemophilia

Question 47

Lymphoproliferative disorders, wilms tumors, lupus, heartdisease and valproic acid can lead to which disorder?

Answer 47

acquired VwB

Question 48

Patient with elevated D Dimer, low platelets and ATIII, and prolonged PT/PTT?

Answer 48

DIC

Question 49

Treatment of DIC?

Answer 49

FFP/cryo, transfuse RBC/plt if needed, ventilator/dialysis if needed, and treat underlying cause